|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes coding for dystrophin, for alpha, beta, gamma, and delta-sarcoglycans, or for the alpha2 chain of the basement membrane component merosin (laminin-2/4) cause various forms of muscular dystrophy.
|
9312189 |
1997 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
|
29847600 |
2018 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Currently, multiplex ligation-dependent probe amplification (MLPA) has been recognized as the most powerful and convenient method to identify exon deletions or duplications in the dystrophin gene, the mutation of which causes Duchenne and Becker muscular dystrophies (DMD/BMD).
|
19473085 |
2009 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed a series of 35 DNA samples from patients affected with cystic fibrosis (CF), Duchenne and Becker muscular dystrophies (DMD/BMD), or sarcoglycanopathies, and have characterized exonic copy-number changes that have been validated with other methods.
|
18683213 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease.
|
26911353 |
2016 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin).
|
17303423 |
2007 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy.
|
30360568 |
2018 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders.
|
23671309 |
2013 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing of Duchenne and Becker muscular dystrophies (DMD/BMD) is a difficult task due to the occurrence of deletions or duplications within dystrophin (DMD) gene that requires dose sensitive tests.
|
16297882 |
2006 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Deletions within the dystrophin gene (DMD) account for >70% of mutations leading to Duchenne and Becker muscular dystrophies (DMD and BMD).
|
16891620 |
2006 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans.
|
10679964 |
2000 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
|
27750387 |
2017 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
|
28495050 |
2017 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated.
|
12031623 |
2002 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity.
|
21396098 |
2011 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males.
|
25076844 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne (DMD) and Becker (BMD) muscular dystrophy are allelic X-linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm of chromosome X (Xp21).
|
7858172 |
1994 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease.
|
23756440 |
2014 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked recessive diseases caused by mutations in the dystrophin gene.
|
21305566 |
2011 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The cloning of the dystrophin gene has led to major advances in the understanding of the molecular genetic basis of Duchenne, Becker, and other muscular dystrophies associated with mutations in genes encoding members of the dystrophin-associated glycoprotein complex.
|
12151886 |
2002 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the genes encoding dystrophin and the associated membrane proteins, the sarcoglycans, produce muscular dystrophy and cardiomyopathy.
|
21138941 |
2011 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical distribution of muscle weakness and contractures.
|
12868501 |
2003 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This manuscript describes a methodology for introduction of corrective nucleic acids (CNAs) for the purpose of correcting the dystrophin gene (DMD ( mdx )) mutation responsible for muscular dystrophy in the mdx mouse model of human DMD by targeted corrective gene conversion (TCGC).
|
18370218 |
2008 |
|
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies.
|
9018456 |
1996 |